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rs431825382

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CTGT) 6 BRCA1 variant considered pathogenic for breast cancer
(-;TGTC) 6 BRCA1 variant considered pathogenic for breast cancer
(TGTC;TGTC) 0 common in clinvar


Make rs431825382(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045573
GeneBRCA1
is asnp
is mentioned by
dbSNPrs431825382
dbSNP (classic)rs431825382
ClinGenrs431825382
ebirs431825382
HLIrs431825382
Exacrs431825382
Gnomadrs431825382
Varsomers431825382
LitVarrs431825382
Maprs431825382
PheGenIrs431825382
Biobankrs431825382
1000 genomesrs431825382
hgdprs431825382
ensemblrs431825382
geneviewrs431825382
scholarrs431825382
googlers431825382
pharmgkbrs431825382
gwascentralrs431825382
openSNPrs431825382
23andMers431825382
SNPshotrs431825382
SNPdbers431825382
MSV3drs431825382
GWAS Ctlgrs431825382
Max Magnitude6

BRCA1, c.*102_*105delCTGT

ClinVar
Risk rs431825382(-;-)
Alt rs431825382(-;-)
Reference Rs431825382(TGTC;TGTC)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41197590_41197593delACAG
CLNSRC ClinVar
CLNACC RCV000083012.2,